"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIAA0319" - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3039730	NM_014809.4(KIAA0319):c.*4C>T	KIAA0319	Single nucleotide variant (3 prime UTR variant)	KIAA0319-related disorder	GLikely benign
Select item 3060890	NM_014809.4(KIAA0319):c.3038A>G (p.Tyr1013Cys)	KIAA0319 (Y1004C +6 more)	Single nucleotide variant (missense variant +2 more)	KIAA0319-related disorder	GBenign
Select item 3059378	NM_014809.4(KIAA0319):c.2973A>G (p.Lys991=)	KIAA0319 (K961R)	Single nucleotide variant (synonymous variant +2 more)	KIAA0319-related disorder	GBenign
Select item 3060264	NM_014809.4(KIAA0319):c.2948+7A>G	KIAA0319	Single nucleotide variant (intron variant)	KIAA0319-related disorder	GBenign
Select item 707909	NM_014809.4(KIAA0319):c.2756G>C (p.Gly919Ala)	KIAA0319 (G910A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3036021	NM_014809.4(KIAA0319):c.2734+3A>G	KIAA0319	Single nucleotide variant (intron variant)	KIAA0319-related disorder	GLikely benign
Select item 3060711	NM_014809.4(KIAA0319):c.2694T>C (p.Ala898=)	KIAA0319	Single nucleotide variant (synonymous variant)	KIAA0319-related disorder	GBenign
Select item 3042107	NM_014809.4(KIAA0319):c.2164C>T (p.Arg722Trp)	KIAA0319 (R133W +6 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GLikely benign
Select item 3039025	NM_014809.4(KIAA0319):c.1768A>G (p.Met590Val)	KIAA0319 (M438V +5 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 784066	NM_014809.4(KIAA0319):c.1361T>C (p.Ile454Thr)	KIAA0319 (I421T +5 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder +1 more	GBenign/Likely benign
Select item 3049337	NM_014809.4(KIAA0319):c.1332G>A (p.Glu444=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3051538	NM_014809.4(KIAA0319):c.1066G>A (p.Ala356Thr)	KIAA0319 (A204T +4 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3057609	NM_014809.4(KIAA0319):c.1044C>T (p.Pro348=)	KIAA0319	Single nucleotide variant (synonymous variant +1 more)	KIAA0319-related disorder	GLikely benign
Select item 3056331	NM_014809.4(KIAA0319):c.931G>A (p.Ala311Thr)	KIAA0319 (A159T +4 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GBenign
Select item 3049041	NM_014809.4(KIAA0319):c.541G>A (p.Glu181Lys)	KIAA0319 (E136K +4 more)	Single nucleotide variant (missense variant)	KIAA0319-related disorder	GLikely benign
Select item 3059261	NM_014809.4(KIAA0319):c.424A>C (p.Thr142Pro)	KIAA0319 (T133P +3 more)	Single nucleotide variant (missense variant +1 more)	KIAA0319-related disorder	GBenign
Select item 3050380	NM_014809.4(KIAA0319):c.55+398G>T	KIAA0319	Single nucleotide variant (5 prime UTR variant +1 more)	KIAA0319-related disorder	GLikely benign